Guest guest Posted August 13, 2004 Report Share Posted August 13, 2004 Hi there, I'd like to join this group to get information. I have so many questions. I believe my son Chase, 2 1/2 years old, could possibly have Mitochondrial Disease, but thought I'd seek out others more familiar with it, to get their opinions and who to contact, etc.... He's had the bloodwork for Mitochondrial Disease, but that came back normal. I've heard that the only true way to diagnose this is by doing a muscle biopsy. Could you please tell me if this is true? Also, would anything show up in an MRI? You can read all about my son on the website that I created for him, please read it and give me your thoughts. I would greatly appreciate it. Looking forward to chatting with all of you. Tina Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 13, 2004 Report Share Posted August 13, 2004 whats the link to his website? I know that it really depends on the child, and the time of the tests as to what will show up... my son has had normal blood work one month and very messed up bloodwork the next... some kids have normal MRI's other have very abnormal one... its a very individual thing... > Hi there, I'd like to join this group to get information. I have so > many questions. I believe my son Chase, 2 1/2 years old, could > possibly have Mitochondrial Disease, but thought I'd seek out others > more familiar with it, to get their opinions and who to contact, > etc.... He's had the bloodwork for Mitochondrial Disease, but that > came back normal. I've heard that the only true way to diagnose this > is by doing a muscle biopsy. Could you please tell me if this is > true? Also, would anything show up in an MRI? You can read all > about my son on the website that I created for him, please read it > and give me your thoughts. I would greatly appreciate it. > > Looking forward to chatting with all of you. > > Tina Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 13, 2004 Report Share Posted August 13, 2004 -Tina, You'll find a lot of support here but I'm sorry that you need it. Have you looked at www.umdf.org? It is a great site and full of all sorts of information. Blood work (genetics, I mean) is positive in only a handful of the cases. A fresh muscle biopsy is the best diagnostic tool out there at the current time. Fresh is best! Our docs tried to talk us into frozen but we refused. I talked to Dr. Whiteman at the mito conference last weekend and he also said fresh is best. We are waiting for that! Quote Link to comment Share on other sites More sharing options...
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